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Mandibuloacral dysostosis
Mandibuloacral dysostosis
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Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
MANDIBULOACRAL DYSOSTOSIS
C0432291
LMNA
Unknown
—
Disgenet
Apoptosis
Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Nuclear Envelope Breakdown
Initiation of Nuclear Envelope (NE) Reformation
Breakdown of the nuclear lamina
XBP1(S) activates chaperone genes
Depolymerisation of the Nuclear Lamina
Signaling by BRAF and RAF fusions
+8 more
MTX2
Unknown
—
Disgenet
Mitophagy - animal
ZMPSTE24
Unknown
—
Disgenet
Terpenoid backbone biosynthesis
All
3
Causal
0
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
3
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
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5
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Mandibuloacral dysplasia
3 shared genes
MTX2, LMNA, ZMPSTE24
Related via 3 shared genes including MTX2, LMNA, ZMPSTE24.
Restrictive dermopathy
2 shared genes
LMNA, ZMPSTE24
Related via 2 shared genes including LMNA, ZMPSTE24.
Severe lipodystrophic laminopathy
1 shared gene
LMNA
Related via 1 shared gene including LMNA.
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
1 shared gene
LMNA
Related via 1 shared gene including LMNA.
Lipoatrophic diabetes mellitus
1 shared gene
LMNA
Related via 1 shared gene including LMNA.
1
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